Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5918500
rs5918500
Entrez Id: 8406
Gene Symbol: SRPX
SRPX
CUI: C0009447
Disease:
Common Variable Immunodeficiency 		0.700 GeneticVariation GWASDB Genome-wide association identifies diverse causes of common variable immunodeficiency. 21497890 2011
dbSNP: rs756386867
rs756386867
Entrez Id: 8406
Gene Symbol: SRPX
SRPX
CUI: C0349588
Disease:
Short stature 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1123773
rs1123773
Entrez Id: 8406
Gene Symbol: SRPX
SRPX
CUI: C0339528
Disease:
X-linked retinitis pigmentosa 		0.010 GeneticVariation BEFREE The allelic association between P225S and xIRP alleles suggests a common ancestral chromosome bearing the P225S variant and an RP3 mutation at a neighbouring locus. 8634709 1995